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European Journal of Medical Genetics
|
August 16, 2017
BRCA1/2 missense mutations and the value of in-silico analyses
Carolin E Sadowski, Daniela Kohlstedt, Cornelia Meisel, et al.
Pediatric Nephrology (Berlin, Germany)
|
April 24, 2015
Response to cyclosporine in steroid-resistant nephrotic syndrome: discontinuation is possible
Ilka Klaassen, Bünyamin Özgören, Carolin E Sadowski, et al.
Clinical Journal of the American Society of Nephrology : CJASN
|
April 19, 2014
Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome
Svjetlana Lovric, Humphrey Fang, Virginia Vega-Warner, et al.
American Journal of Human Genetics
|
January 6, 2015
Defects of CRB2 cause steroid-resistant nephrotic syndrome
Lwaki Ebarasi, Shazia Ashraf, Agnieszka Bierzynska, et al.
American Journal of Human Genetics
|
May 13, 2014
Mutations in EMP2 cause childhood-onset nephrotic syndrome
Heon Yung Gee, Shazia Ashraf, Xiaoyang Wan, et al.
Human Mutation
|
July 1, 2015
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease
Julia Vodopiutz, Rainer Seidl, Daniela Prayer, et al.
The Journal of Clinical Investigation
|
May 12, 2015
KANK deficiency leads to podocyte dysfunction and nephrotic syndrome
Heon Yung Gee, Fujian Zhang, Shazia Ashraf, et al.
Journal of the American Society of Nephrology : JASN
|
October 29, 2014
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome
Carolin E Sadowski, Svjetlana Lovric, Shazia Ashraf, et al.
Nature Genetics
|
February 16, 2016
Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome
Daniela A Braun, Carolin E Sadowski, Stefan Kohl, et al.
Brain : a Journal of Neurology
|
June 14, 2015
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73
Robert N Jinks, Erik G Puffenberger, Emma Baple, et al.
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of 2
Search research articles
Search
Showing results (1-10 of 15) with videos related to
Sort By:
Page
of 2
European Journal of Medical Genetics
|
August 16, 2017
BRCA1/2 missense mutations and the value of in-silico analyses
Carolin E Sadowski, Daniela Kohlstedt, Cornelia Meisel, et al.
Pediatric Nephrology (Berlin, Germany)
|
April 24, 2015
Response to cyclosporine in steroid-resistant nephrotic syndrome: discontinuation is possible
Ilka Klaassen, Bünyamin Özgören, Carolin E Sadowski, et al.
Clinical Journal of the American Society of Nephrology : CJASN
|
April 19, 2014
Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome
Svjetlana Lovric, Humphrey Fang, Virginia Vega-Warner, et al.
American Journal of Human Genetics
|
January 6, 2015
Defects of CRB2 cause steroid-resistant nephrotic syndrome
Lwaki Ebarasi, Shazia Ashraf, Agnieszka Bierzynska, et al.
American Journal of Human Genetics
|
May 13, 2014
Mutations in EMP2 cause childhood-onset nephrotic syndrome
Heon Yung Gee, Shazia Ashraf, Xiaoyang Wan, et al.
Human Mutation
|
July 1, 2015
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease
Julia Vodopiutz, Rainer Seidl, Daniela Prayer, et al.
The Journal of Clinical Investigation
|
May 12, 2015
KANK deficiency leads to podocyte dysfunction and nephrotic syndrome
Heon Yung Gee, Fujian Zhang, Shazia Ashraf, et al.
Journal of the American Society of Nephrology : JASN
|
October 29, 2014
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome
Carolin E Sadowski, Svjetlana Lovric, Shazia Ashraf, et al.
Nature Genetics
|
February 16, 2016
Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome
Daniela A Braun, Carolin E Sadowski, Stefan Kohl, et al.
Brain : a Journal of Neurology
|
June 14, 2015
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73
Robert N Jinks, Erik G Puffenberger, Emma Baple, et al.
Page
of 2